Journal article

Genome-wide analysis highlights epigenetic link to age at menarche

Z Ye, R Xu, GL Malone, PA Dugué, TL Nguyen, GG Giles, MC Southey, RL Milne, S Li

Human Reproduction | Published : 2026

DOI: 10.1093/humrep/deag019

Abstract

Abstract STUDY QUESTION Do genome-wide DNA methylation patterns influence age at menarche? SUMMARY ANSWER An epigenome-wide association study identified 63 differentially methylated regions (DMRs), with replication and Mendelian randomization supporting suggestive causal effects of TRIM61 methylation on age at menarche. WHAT IS KNOWN ALREADY Age at menarche is a key reproductive milestone, associated with cancer and metabolic outcomes. Genome-wide studies have suggested genetic influences, but the epigenetic mechanisms regulating pubertal timing remain largely unexplored. STUDY DESIGN, SIZE, DURATION Cross-sectional epigenome-wide association study of blood DNA methylation in 3429 adult wome..

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University of Melbourne Researchers

Zhoufeng Ye Author

George Malone Author

Kevin Nguyen Author

Graham Giles Author

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Keywords

Age at Menarche

Mendelian Randomization

Contraception/reproduction

3215 Reproductive Medicine

Women’s Health

Generic Health Relevance

Pubertal Timing

2.1 Biological and Endogenous Factors

Reproductive Health and Childbirth

Cancer Genomics

32 Biomedical and Clinical Sciences